Stats by Source
Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)
Total = all mutations for this gene across every source.
Cell line = COSMIC Cell Lines Project + DepMap + PubMed.
Tissue = COSMIC primary-tissue (patient tumour) samples.
Total can exceed cell line + tissue: COSMIC tissue-derived models sit only in global, and a peptide can be shared across both.
| Total | Cell line | Tissue | |
|---|---|---|---|
| Mutations | 1,554 | 221 | 1,310 |
| Samples | 717 | 134 | 570 |
| Peptides | 569 | 94 | 483 |
Function
LIFR · LIF receptor subunit alpha
This gene encodes a protein that belongs to the type I cytokine receptor family. This protein combines with a high-affinity converter subunit, gp130, to form a receptor complex that mediates the action of the leukemia inhibitory factor, a polyfunctional cytokine that is involved in cellular differentiation, proliferation and survival in the adult and the embryo. Mutations in this gene cause Schwartz-Jampel syndrome type 2, a disease belonging to the group of the bent-bone dysplasias. A translocation that involves the promoter of this gene, t(5;8)(p13;q12) with the pleiomorphic adenoma gene 1, is associated with salivary gland pleiomorphic adenoma, a common type of benign epithelial tumor of the salivary gland. Multiple splice variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2018].
Isoforms & Proteins
2 transcripts · UniProt mapping is sequence-verified (AA-safe)
Each Ensembl transcript (ENST) this gene is mutated on, with its matched UniProt accession.
The mapping is sequence-verified: the UniProt sequence is identical to the transcript translation, so amino-acid positions line up exactly. A * marks an unreviewed (TrEMBL) entry.
Counts are mutations and unique mutant peptides on each transcript.
Gene Properties
Recurrent Mutations
All 566 amino-acid changes on canonical ENST00000453190 · needle height = samples · drag the mini-map to zoom
A lollipop / needle plot – the standard way to show recurrent mutations along a protein (as used by cBioPortal and MutationMapper).
X-axis = amino-acid position in the protein.
Needle height & head size = how often that exact amino-acid change was observed (its recurrence). Tall/large heads are mutational hotspots.
The most recurrent changes are labelled; hover any needle for the change, position and counts.
Mutation frequency across cancer types
% of samples with a missense/complex mutation in LIFR · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in LIFR – counted as distinct samples (a sample counts once no matter how many mutations it has).
Split into cell line and tissue; each cell shows mutated / total and the percentage. Cohorts with <20 samples are omitted. Ordered by combined frequency.
| Cancer type | Cell lines | Tissue samples |
|---|---|---|
| T-Lymphoblastic Leukemia | 8/40 20% | 0/0 0% |
| Glioblastoma | 7/98 7% | 0/0 0% |
| Melanoma | 17/210 8% | 131/1899 7% |
| Endometrial Carcinoma | 12/42 29% | 31/612 5% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Colorectal Carcinoma | 21/143 15% | 95/3239 3% |
| Acute Myeloid Leukemia | 3/90 3% | 0/0 0% |
| Unknown | 0/10 0% | 1/29 3% |
| Non-Small Cell Lung Carcinoma | 15/304 5% | 27/1390 2% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 3/133 2% |
| Other Solid Cancers | 1/94 1% | 30/1515 2% |
| Osteosarcoma | 4/45 9% | 0/166 0% |
| Bladder Carcinoma | 0/58 0% | 19/956 2% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 15/810 2% |
| Burkitts Lymphoma | 4/32 12% | 0/196 0% |
| Adrenocortical Carcinoma | 0/3 0% | 2/112 2% |
| Gastric Carcinoma | 1/74 1% | 27/1809 1% |
| Hodgkins Lymphoma | 0/16 0% | 2/122 2% |
| Esophageal Squamous Cell Carcinoma | 4/51 8% | 28/2550 1% |
| Biliary Tract Carcinoma | 1/54 2% | 11/950 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 9/752 1% |
| Plasma Cell Myeloma | 1/44 2% | 3/305 1% |
| Hepatocellular Carcinoma | 3/46 7% | 22/2210 1% |
| Neuroendocrine Tumour | 2/154 1% | 6/577 1% |
| Head and Neck Carcinoma | 1/85 1% | 17/1574 1% |
| Germ Cell Tumour | 2/25 8% | 0/169 0% |
| Ovarian Carcinoma | 4/109 4% | 6/998 1% |
| Cervical Carcinoma | 0/35 0% | 4/422 1% |
| Mesothelioma | 1/62 2% | 1/165 1% |
Mutation Distribution
Where LIFR is mutated · all tissues, split by cell line vs tissue
How many mutations in LIFR were found in each tissue, across the whole database.
Each bar is a tissue (cell-line and tissue names are merged to the standard tissue), split into cell line and tissue (patient tumour) contributions.
This shows the cancer-context where this gene is recurrently altered.
GTEx Expression
Median TPM across 54 healthy tissues
Median gene expression (TPM) in normal, non-cancer human tissues from the GTEx project.
Useful for judging tumour specificity – a strong neoantigen target ideally comes from a gene with low expression in healthy tissues.
Scroll or drag the mini-axis below the chart to browse all tissues.
Mutations
All 1,554 mutations in LIFR
Every mutation record for this gene, across all samples and sources.
The Sample column links to the cell line (cell-line samples) or the tissue type (tissue samples).
Use the Type / Source filters, the search box, and column sorting to explore; each CAN-IMMUNE ID opens the full mutation & peptide view.
| ID | Sample | Transcript | AA Change | CDS | Type | Source | Mutant Peptide | Wild-type Peptide |
|---|